V82A (p.Val82Ala) variant of FBN2 (Fibrillin-2)
V82A (p.Val82Ala) in FBN2 (Fibrillin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
V82A (p.Val82Ala) variant details
- p.Val82Ala
- TOPMed rs1235527803
- gnomAD rs1235527803
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.17
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.35
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available